Canonical Allele Identifier: CA4353042

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 449394
• ClinVar RCV Id: RCV000523426 ; RCV000806593 ; RCV000779547 ; RCV001834681 ; RCV003476219
• dbSNP Id: rs758827458
• ExAC: 7:95813703 G / A
• gnomAD v2: 7-95813703-G-A
• gnomAD v3: 7-96184391-G-A
• gnomAD v4: 7-96184391-G-A
• MyVariant Identifiers: chr7:g.95813703G>A (hg19) ; chr7:g.96184391G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184391G>A , CM000669.2:g.96184391G>A	GRCh38
NC_000007.13:g.95813703G>A , CM000669.1:g.95813703G>A	GRCh37
NC_000007.12:g.95651639G>A	NCBI36
NG_012247.1:g.142757C>T
NG_012247.2:g.142757C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1063C>T MANE Select	ENSP00000265631.6:p.Arg355Ter
ENST00000265631.9:c.1063C>T	ENSP00000265631.5:p.Arg355Ter
ENST00000416240.6:c.1066C>T	ENSP00000400101.2:p.Arg356Ter
ENST00000484495.5:n.216C>T
ENST00000490072.5:n.130C>T
ENST00000492869.1:n.184C>T
NM_001160210.1:c.1066C>T	NP_001153682.1:p.Arg356Ter
NM_014251.2:c.1063C>T	NP_055066.1:p.Arg355Ter
NR_027662.1:n.1138C>T
XM_006715831.2:c.1096C>T	XP_006715894.1:p.Arg366Ter
XM_011515727.1:c.1096C>T	XP_011514029.1:p.Arg366Ter
XM_011515728.1:c.211C>T	XP_011514030.1:p.Arg71Ter
XM_006715831.4:c.1096C>T	XP_006715894.1:p.Arg366Ter
XM_011515727.3:c.1096C>T	XP_011514029.1:p.Arg366Ter
XM_017011663.1:c.1054C>T	XP_016867152.1:p.Arg352Ter
XM_017011664.2:c.211C>T	XP_016867153.1:p.Arg71Ter
XM_017011665.1:c.211C>T	XP_016867154.1:p.Arg71Ter
XR_001744525.2:n.1234C>T
XR_002956405.1:n.1867C>T
NM_014251.3:c.1063C>T MANE Select	NP_055066.1:p.Arg355Ter
NR_027662.2:n.1089C>T
NM_001160210.2:c.1066C>T	NP_001153682.1:p.Arg356Ter